A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607593



Internal ID16048316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76504886..77074928hg38UCSC Ensembl
Innerchr7:76134203..76704245hg19UCSC Ensembl
Innerchr7:75972139..76542181hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38570043
hg19570043
hg18570043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1088032
Samples
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607593
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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